title: [Investigation of FLT3-ITD and NPM1 mutations in patients with myelodysplastic syndrome and mixed myeloid diseases].
abstract: Two FLT3-ITD mutations, one FLT3-TKD) and five NPM1 mutations were detected in 7 patients with de novo myelodysplastic syndrome (MDS) out of 44 cases of MDS and MDS/mixed myeloid diseases. Expression of one of the three investigated mutations was identified: 4 in gene NPM1 (9.1%) and 2--FLT3-ITD (4.5%); simultaneous FLT3-ITD and NPM1 mutation--1 (2.3%); no progression in NPM1 within 9-20 months--3, although with chromosome 7 damage--2. It was suggested that NPM1 mutation without complex karyotype may serve as marker of relatively favorable course.
authors.forename: S V
authors.initials: SV
authors.lastname: Gritsaev
authors.forename: I S
authors.initials: IS
authors.lastname: Martynkevich
authors.forename: M P
authors.initials: MP
authors.lastname: Ivanova
authors.forename: M V
authors.initials: MV
authors.lastname: Moskalenko
authors.forename: V Iu
authors.initials: VIu
authors.lastname: Aksenova
authors.forename: S A
authors.initials: SA
authors.lastname: Tiranova
authors.forename: K M
authors.initials: KM
authors.lastname: Abdulkadyrov
mesh_terms: D000368:Aged; D001855:Bone Marrow Diseases / Q000235:genetics*; D018450:Disease Progression; D005260:Female; D015972:Gene Expression Regulation, Neoplastic; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D000090243:Nucleophosmin; D011237:Predictive Value of Tests; D011379:Prognosis; D013997:Time Factors; D051941:fms-Like Tyrosine Kinase 3 / Q000235:genetics*
chemical_list: C000716967:NPM1 protein, human; D009687:Nuclear Proteins; D000090243:Nucleophosmin; C497970:FLT3 protein, human; D051941:fms-Like Tyrosine Kinase 3